Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G1030V
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COL1A2

NM_000089.4:p.G1030V

Associated Papers

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

Westenius E et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Boye E et al.

American Journal of Human Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."